LRFN5 (leucine rich repeat and fibronectin type III domain containing 5)

Gene

• Entrez ID: 145581
• Gene name: Leucine rich repeat and fibronectin type III domain containing 5
• Gene symbol: LRFN5
• Synonyms (NCBI Gene): C14orf146, FIGLER8, SALM5
• Chromosome: 14
• Chromosome location: 14q21.1
• Summary: This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [pr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1117556	hsa-miR-4282	CLIP-seq
MIRT1117557	hsa-miR-4717-5p	CLIP-seq
MIRT2033201	hsa-miR-106a	CLIP-seq
MIRT2033202	hsa-miR-106b	CLIP-seq
MIRT2033203	hsa-miR-1193	CLIP-seq
MIRT2033204	hsa-miR-139-5p	CLIP-seq
MIRT2033205	hsa-miR-17	CLIP-seq
MIRT2033206	hsa-miR-20a	CLIP-seq
MIRT2033207	hsa-miR-20b	CLIP-seq
MIRT2033208	hsa-miR-2681	CLIP-seq
MIRT2033209	hsa-miR-3065-5p	CLIP-seq
MIRT2033210	hsa-miR-3609	CLIP-seq
MIRT2033211	hsa-miR-3689a-5p	CLIP-seq
MIRT2033212	hsa-miR-3689b	CLIP-seq
MIRT2033213	hsa-miR-3689e	CLIP-seq
MIRT2033214	hsa-miR-3689f	CLIP-seq
MIRT2033215	hsa-miR-421	CLIP-seq
MIRT2033216	hsa-miR-4272	CLIP-seq
MIRT1117556	hsa-miR-4282	CLIP-seq
MIRT2033217	hsa-miR-4426	CLIP-seq
MIRT2033218	hsa-miR-4647	CLIP-seq
MIRT2033219	hsa-miR-4659a-3p	CLIP-seq
MIRT2033220	hsa-miR-4659b-3p	CLIP-seq
MIRT2033221	hsa-miR-4662b	CLIP-seq
MIRT1117557	hsa-miR-4717-5p	CLIP-seq
MIRT2033222	hsa-miR-4796-3p	CLIP-seq
MIRT2033223	hsa-miR-490-5p	CLIP-seq
MIRT2033224	hsa-miR-5096	CLIP-seq
MIRT2033225	hsa-miR-519d	CLIP-seq
MIRT2033226	hsa-miR-548ah	CLIP-seq
MIRT2033227	hsa-miR-622	CLIP-seq
MIRT2033228	hsa-miR-659	CLIP-seq
MIRT2033229	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27152329
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0043031	Process	Negative regulation of macrophage activation	IEA
GO:0043031	Process	Negative regulation of macrophage activation	ISS
GO:0050728	Process	Negative regulation of inflammatory response	IDA	27152329
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099560	Process	Synaptic membrane adhesion	IBA
GO:0099560	Process	Synaptic membrane adhesion	IEA
GO:1905606	Process	Regulation of presynapse assembly	IBA
GO:1905606	Process	Regulation of presynapse assembly	IEA

Other IDs

• MIM: 612811
• HGNC: 20360
• e!Ensembl: ENSG00000165379

Protein

• UniProt ID: Q96NI6
• Protein name: Leucine-rich repeat and fibronectin type-III domain-containing protein 5
• Protein function: Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons.
• PDB: 5XNP, 5XNQ, 5XWS, 5XWT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13306	LRR_5	56 → 213	BspA type Leucine rich repeat region (6 copies)	Repeat
  PF07679	I-set	287 → 374	Immunoglobulin I-set domain	Domain

• Sequence:

  MEKILFYLFLIGIAVKAQICPKRCVCQILSPNLATLCAKKGLLFVPPNIDRRTVELRLAD
  NFVTNIKRKDFANMTSLVDLTLSRNTISFITPHAFADLRNLRALHLNSNRLTKITNDMFS
  GLSNLHHLILNNNQLTLISSTAFDDVFALEELDLSYNNLETIPWDAVEKMVSLHTLSLDH
  NMIDNIPKGTFSHLHKMTRLDVTSNKLQKLPPDPLFQRAQVLATSGIISPSTFALSFGGN
  PLHCNCELLWLRRLSREDDLETCASPPLLTGRYFWSIPEEEFLCEPPLITRHTHEMRVLE
  GQRATLRCKARGDPEPAIHWISPEGKLISNATRSLVYDNGTLDILITTVKDTGAFTCIAS
  NPAGEATQIVDLHIIKLPHLLNSTNHIHEPDPGSSDISTSTKSGSNTSSSNGDTKLSQDK
  IVVAEATSSTALLKFNFQRNIPGIRMFQIQYNGTYDDTLVYRMIPPTSKTFLVNNLAAGT
  MYDLCVLAIYDDGITSLTATRVVGCIQFTTEQDYVRCHFMQSQFLGGTMIIIIGGIIVAS
  VLVFIIILMIRYKVCNNNGQHKVTKVSNVYSQTNGAQIQGCSVTLPQSVSKQAVGHEENA
  QCCKATSDNVIQSSETCSSQDSSTTTSALPPSWTSSTSVSQKQKRKTGTKPSTEPQNEAV
  TNVESQNTNRNNSTALQLASRPPDSVTEGPTSKRAHIKPNALLTNVDQIVQETQRLELI

• Sequence length: 719

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LRFN5-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorder	Autism	Pubtator	31152157	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31152157		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21736948, 29348579		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25690665, 31748543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059, 29700475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	31152157		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35578189	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	25690665, 31748543		★☆☆☆☆ Found in Text Mining only